A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639956



Internal ID7026734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11667627..11668545hg38UCSC Ensembl
Innerchr17:11667627..11668545hg38UCSC Ensembl
Outerchr17:11667360..11668797hg38UCSC Ensembl
chr17:11570944..11571862hg19UCSC Ensembl
Innerchr17:11570944..11571862hg19UCSC Ensembl
Outerchr17:11570677..11572114hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38919
hg19919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15612807, essv15612808
SamplesNA18603, NA18611
Known GenesDNAH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639956
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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